SPEG-deficient skeletal muscles exhibit abnormal triad and defective calcium handling

Centronuclear myopathies (CNM) are a subtype of congenital myopathies (CM) characterized by skeletal muscle weakness and an increase in the number of central myonuclei. We have previously identified three CNM probands, two with associated dilated cardiomyopathy, carrying striated preferentially expr...

Cur síos iomlán

Na minha lista:
Sonraí Bibleagrafaíochta
Foilsithe in:Hum Mol Genet
Main Authors: Huntoon, Virginia, Widrick, Jeffrey J, Sanchez, Colline, Rosen, Samantha M, Kutchukian, Candice, Cao, Siqi, Pierson, Christopher R, Liu, Xiaoli, Perrella, Mark A, Beggs, Alan H, Jacquemond, Vincent, Agrawal, Pankaj B
Formáid: Artigo
Teanga:Inglês
Foilsithe: Oxford University Press 2018
Ábhair:
Articles
Rochtain Ar Líne:https://ncbi.nlm.nih.gov/pmc/articles/PMC5905626/
https://ncbi.nlm.nih.gov/pubmed/29474540
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddy068
Clibeanna: Cuir Clib Leis
Gan Chlibeanna, Bí ar an gcéad duine leis an taifead seo a chlibeáil!

Míreanna Comhchosúla